Varaico: Literature-Extracted Genetic Variants

Gene:FOXE1
Variant:p.R102C
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FOXE1

NM_004473.4:p.R102C

Associated Papers

Missense variants in human forkhead transcription factors reveal determinants of forkhead DNA bispecificity.

King J et al.

Cell Reports, 2025

41124077 (PubMed )
Supplement: NIHMS2125804-supplement-2.xlsx › TableS1B

Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders.

Sollis E et al.

Human Mutation, 2017

FOXE1 Mutation Screening in a Case with Cleft Lip, Hypothyroidism, and Thyroid Carcinoma: A New Syndrome?

Mendieta-Zerón H et al.

Case Reports in Genetics, 2017

Somatic Mutations of FOXE1 in Papillary Thyroid Cancer.

Mond M et al.

Thyroid : Official Journal of the American Thyroid Association, 2015

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › TCGA

MSX1 and TGF-beta3 are novel target genes functionally regulated by FOXE1.

Venza I et al.

Human Molecular Genetics, 2011

Characterization of mutations in the FOXE1 gene in a cohort of unrelated Malaysian patients with congenital hypothyroidism and thyroid dysgenesis.

Kang IN et al.

Biochemical Genetics, 2010

Spectrum of Human Foxe1/TTF2 Mutations.

Castanet M et al.

Hormone Research in Paediatrics, 2010

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII-

A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis.

Baris I et al.

The Journal of Clinical Endocrinology and Metabolism, 2006

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